Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA104520

Gene: ALG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4725

ClinVar RCV Id: RCV000004990 RCV001091535 RCV002512789

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_061982.3:p.Gln342Pro	CA277940 NM_019109.4:c.1025A>C